메뉴 건너뛰기




Volumn 4, Issue 1, 2008, Pages 53-58

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

Author keywords

Endocrine neoplasia; Hypercalcemia; Parathyroid hormone

Indexed keywords

ASPARAGINE; CALCIUM; DNA; LEUCINE; PARATHYROID HORMONE; TRYPTOPHAN; TYROSINE;

EID: 37349016937     PISSN: 17458366     EISSN: 17458374     Source Type: Journal    
DOI: 10.1038/ncpendmet0718     Document Type: Article
Times cited : (65)

References (24)
  • 1
    • 33845234713 scopus 로고    scopus 로고
    • Multiple Endocrine Neoplasia Type 1
    • Eds and, Philadelphia, PA: WB Saunders
    • Thakker RV (2006) Multiple Endocrine Neoplasia Type 1. In Endocrinology, 3509-3531 (Eds DeGroot LJ and Jameson JL) Philadelphia, PA: WB Saunders
    • (2006) Endocrinology , pp. 3509-3531
    • Thakker, R.V.1
  • 2
    • 19944434120 scopus 로고    scopus 로고
    • Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
    • Bradley KJ et al. (2005) Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med 257: 18-26
    • (2005) J Intern Med , vol.257 , pp. 18-26
    • Bradley, K.J.1
  • 3
    • 37349124605 scopus 로고    scopus 로고
    • Multiple Endocrine Neoplasia Type 2
    • Eds and, Philadelphia, PA: WB Saunders
    • Hoff AO and Gagel RF (2006) Multiple Endocrine Neoplasia Type 2. In Endocrinology, 3533-3550 (Eds DeGroot LJ and Jameson JL) Philadelphia, PA: WB Saunders
    • (2006) Endocrinology , pp. 3533-3550
    • Hoff, A.O.1    Gagel, R.F.2
  • 4
    • 0036839719 scopus 로고    scopus 로고
    • Epidemiology of primary hyperparathyroidism in Europe
    • Adami S et al. (2002) Epidemiology of primary hyperparathyroidism in Europe. J Bone Miner Res 17 (Suppl 2): N18-N23
    • (2002) J Bone Miner Res , vol.17 , Issue.SUPPL. 2
    • Adami, S.1
  • 5
    • 0038332150 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
    • Pannett AA et al. (2003) Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 58: 639-646
    • (2003) Clin Endocrinol (Oxf) , vol.58 , pp. 639-646
    • Pannett, A.A.1
  • 6
    • 0024532084 scopus 로고
    • Sublocalization of the human protein C gene on chromosome 2q13-q14
    • Patracchini P et al. (1989) Sublocalization of the human protein C gene on chromosome 2q13-q14. Hum Genet 81: 191-192
    • (1989) Hum Genet , vol.81 , pp. 191-192
    • Patracchini, P.1
  • 7
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68: 820-823
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson Jr, A.G.1
  • 8
    • 8744299920 scopus 로고    scopus 로고
    • Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: Germline and somatic mutations in familial and sporadic parathyroid tumors
    • Cetani F et al. (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89: 5583-5591
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 5583-5591
    • Cetani, F.1
  • 9
    • 0842291514 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome
    • Simonds WF et al. (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89: 96-102
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 96-102
    • Simonds, W.F.1
  • 10
    • 2942513691 scopus 로고    scopus 로고
    • Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
    • Villablanca A et al. (2004) Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet 41: e32
    • (2004) J Med Genet , vol.41
    • Villablanca, A.1
  • 11
    • 33644937809 scopus 로고    scopus 로고
    • Utilisation of a cryptic noncanonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
    • Bradley KJ et al. (2005) Utilisation of a cryptic noncanonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. J Med Genet 42: e51
    • (2005) J Med Genet , vol.42
    • Bradley, K.J.1
  • 12
    • 33644943454 scopus 로고    scopus 로고
    • Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours
    • Bradley KJ et al. (2006) Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) 64: 299-306
    • (2006) Clin Endocrinol (Oxf) , vol.64 , pp. 299-306
    • Bradley, K.J.1
  • 13
    • 33747668789 scopus 로고    scopus 로고
    • Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: Implications for cancer surveillance
    • Guarnieri V et al. (2006) Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. J Clin Endocrinol Metab 91: 2827-2832
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2827-2832
    • Guarnieri, V.1
  • 14
    • 33749257125 scopus 로고    scopus 로고
    • Surveillance for early detection of aggressive parathyroid disease: Carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation
    • Kelly TG et al. (2006) Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J Bone Miner Res 21: 1666-1671
    • (2006) J Bone Miner Res , vol.21 , pp. 1666-1671
    • Kelly, T.G.1
  • 15
    • 33745207986 scopus 로고    scopus 로고
    • Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome
    • Mizusawa N et al. (2006) Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxf) 65: 9-16
    • (2006) Clin Endocrinol (Oxf) , vol.65 , pp. 9-16
    • Mizusawa, N.1
  • 16
    • 18744385803 scopus 로고    scopus 로고
    • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
    • Carpten JD et al. (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32: 676-680
    • (2002) Nat Genet , vol.32 , pp. 676-680
    • Carpten, J.D.1
  • 17
    • 0036141731 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism: Clinical and genetic characteristics of 36 kindreds
    • Simonds WF et al. (2002) Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 81: 1-26
    • (2002) Medicine (Baltimore) , vol.81 , pp. 1-26
    • Simonds, W.F.1
  • 18
    • 0027787680 scopus 로고
    • 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
    • 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75: 1297-1303
    • (1993) Cell , vol.75 , pp. 1297-1303
    • Pollak, M.R.1
  • 19
    • 1442277000 scopus 로고    scopus 로고
    • Diseases associated with the extracellular calcium-sensing receptor
    • Thakker RV (2004) Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium 35: 275-282
    • (2004) Cell Calcium , vol.35 , pp. 275-282
    • Thakker, R.V.1
  • 20
    • 17744369268 scopus 로고    scopus 로고
    • Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor
    • Carling T et al. (2000) Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85: 2042-2047
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 2042-2047
    • Carling, T.1
  • 21
    • 12144288720 scopus 로고    scopus 로고
    • Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications
    • Warner J et al. (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 41: 155-160
    • (2004) J Med Genet , vol.41 , pp. 155-160
    • Warner, J.1
  • 22
    • 0034904731 scopus 로고    scopus 로고
    • Familial isolated primary hyperparathyroidism-a multiple endocrine neoplasia type 1 variant?
    • Miedlich S et al. (2001) Familial isolated primary hyperparathyroidism-a multiple endocrine neoplasia type 1 variant? Eur J Endocrinol 145: 155-160
    • (2001) Eur J Endocrinol , vol.145 , pp. 155-160
    • Miedlich, S.1
  • 23
    • 85047682409 scopus 로고    scopus 로고
    • Guidelines for diagnosis and therapy of MEN type 1 and type 2
    • Brandi ML et al. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658-5671
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5658-5671
    • Brandi, M.L.1
  • 24
    • 0036915370 scopus 로고    scopus 로고
    • Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism
    • Carneiro DM et al. (2002) Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism. Surgery 132: 1050-1054
    • (2002) Surgery , vol.132 , pp. 1050-1054
    • Carneiro, D.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.